Jeune Syndrome is a very rare (1:200,000), recessively inherited ciliary disorder from the short-rib polydactyly syndrome spectrum, which affects mainly the skeletal system but may also be accompanied by symptoms in other organ systems. Mutations in several genes encoding for ciliary transport molecules have been found to cause JATD.

Primary features

Variable degree or narrow/ small thorax due to short ribs resulting in lung hypoplasia in utero.

Respiratory distress at birth and in infancy which improves later in life due to postnatal rib growth.

Short arms and legs and shortening of the fingers (brachydactyly) may be present.

Cone shaped epiphyses (ends of the bones) often become visible in x-ray images of the hands after the first year of life.

Rarely extra fingers and toes (polydactyly).

Rarely clinically manifest retinal disease such as retinitis pigmentosa and rod-cone dystrophy leading to impaired vision and progression to blindness, mainly associated with mutations in certain genes such as IFT140 so far.

Renal disease due to polycystic or nephronophthisis-like kidney symptoms which may progress into renal insufficiency occurs in 10-30% of the cases: mainly associated with mutations in certain genes such as IFT140 so far.

Mild liver dysfunction is often reported which only rarely seems to progress into more severe liver disease.

Neurological symptoms are usually not observed.

Impact of JATD

Lethality occurs in 20-60% of all cases, mainly during the first 1-2 years of life and is most often due to respiratory problems resulting from the narrow ribcage. Patients seem to "grow out" of the rib phenotype later in life. Nevertheless, the narrow ribcage can cause mechanical lung compression during pregnancy in female patients. Patients also might more frequently develop scoliosis and hip dysplasia.

There is no causative therapy available for JATD to date, therapeutic options are limited to supportive measures such as mechanical ventilation or thoracic expansion surgery in severe cases and appropriate treatment of respiratory infections. Renal disease should be diagnosed early and patients should receive appropriate supportive treatment such as dialysis and renal transplantation. Retinal disease should be excluded and/or monitored via regular ERG (Electroretinogramme) examinations.

Extra fingers and toes can be removed surgically if they cause functional problems.